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Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
Authors: Braun, Daniela A; Sadowski, Carolin E; Kohl, Stefan; Lovric, Svjetlana; Pabst, Werner L; Gee, Heon Yung; Astrinidis, Susanne A; Ashraf, Shazia; Lawson, Jennifer A; Shril, Shirlee; Airik, Merlin; Tan, Weizhen; Schapiro, David; Rao, Jia; Choi, Won-Il; Hermle, Tobias; Kemper, Markus J; Pohl, Martin; Ozaltin, Fatih; Konrad, Martin; Bogdanovic, Radovan; Büscher, Rainer; Helmchen, Udo; Serdaroglu, Erkin; Lifton, Richard P; Antonin, Wolfram; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2016
Title of Journal: Nature Genetics
Volume: 48
Issue / Number: 4
Start Page: 457
End Page: 465
Document Type: Article
ID: 730438.0
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
Authors: Hoefele, Julia; Sudbrak, Ralf; Reinhardt, Richard; Lehrack, Silvia; Hennig, Steffen; Imm, Anita; Muerb, Ulla; Utsch, Boris; Attanasio, Massimo; O'Toole, John F.; Otto, Edgar; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-03-17
Title of Journal: Human Mutation
Volume: 25
Issue / Number: 4
Start Page: 411
End Page: 411
Document Type: Article
ID: 271580.0
 
Full text / Content available
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
Authors: Hoefele, Julia; Sudbrak, Ralf; Reinhardt, Richard; Lehrack, Silvia; Hennig, Steffen; Imm, Anita; Muerb, Ulla; Utsch, Boris; Attanasio, Massimo; O'Toole, John F.; Otto, Edgar; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-03-17
Title of Journal: Human Mutation
Volume: 25
Issue / Number: 4
Start Page: 411
End Page: 411
Document Type: Article
ID: 272860.0
 
Full text / Content available
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Authors: Otto, Edgar A; Loeys, Bart; Khanna, Hemant; Hellemans, Jan; Sudbrak, Ralf; Fan, Shuling; Muerb, Ulla; O'Toole, John F; Helou, Juliana; Attanasio, Massimo; Utsch, Boris; Sayer, John A; Lillo, Concepcion; Jimeno, David; Coucke, Paul; De Paepe, Anne; Reinhard, Richard; Klages, Sven; Tsuda, Motoyuki; Kawakami, Isao; Kusakabe, Takehiro; Omran, Heymut; Imm, Anita; Tippens, Melissa; Raymond, Pamela A; Hill, Jo; Beales, Phil; He, Shirley; Kispert, Andreas; Margolis, Benjamin; Williams, David S.; Swaroop, Anand; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-02-20
Title of Journal: Nature Genetics
Volume: 37
Issue / Number: 3
Start Page: 282
End Page: 288
Document Type: Article
ID: 272850.0
 
Full text / Content available
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Authors: Otto, Edgar A; Loeys, Bart; Khanna, Hemant; Hellemans, Jan; Sudbrak, Ralf; Fan, Shuling; Muerb, Ulla; O'Toole, John F; Helou, Juliana; Attanasio, Massimo; Utsch, Boris; Sayer, John A; Lillo, Concepcion; Jimeno, David; Coucke, Paul; De Paepe, Anne; Reinhard, Richard; Klages, Sven; Tsuda, Motoyuki; Kawakami, Isao; Kusakabe, Takehiro; Omran, Heymut; Imm, Anita; Tippens, Melissa; Raymond, Pamela A; Hill, Jo; Beales, Phil; He, Shirley; Kispert, Andreas; Margolis, Benjamin; Williams, David S.; Swaroop, Anand; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-02-20
Title of Journal: Nature Genetics
Volume: 37
Issue / Number: 3
Start Page: 282
End Page: 288
Document Type: Article
ID: 272853.0
 
Full text / Content available
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
Authors: Olbrich, Heike; Fliegauf, Manfred; Hoefele, Julia; Kispert, Andreas; Otto, Edgar; Volz, Andreas; Wolf, Matthias T.; Sasmaz, Gürsel; Trauer, Ute; Reinhardt, Richard; Sudbrak, Ralf; Antignac, Corinne; Gretz, Norbert; Walz, Gerd; Schermer, Bernhard; Benzing, Thomas; Hildebrandt, Friedhelm; Omran, Heymut
Date of Publication (YYYY-MM-DD): 2003-08
Title of Journal: Nature Genetics
Volume: 34
Issue / Number: 4
Start Page: 455
End Page: 459
Document Type: Article
ID: 173903.0
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
Authors: Otto, Edgar; Hoefele, Julia; Ruf, Rainer; Mueller, Adelheid M.; Hiller, Karl S.; Wolf, Matthias T. F.; Schuermann, Maria J.; Becker, Achim; Birkenhäger, Ralf; Sudbrak, Ralf; Hennies, Hans C.; Nürnberg, Peter; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2002-08-29
Title of Journal: American Journal of Human Genetics
Volume: 71
Issue / Number: 5
Start Page: 1161
End Page: 1167
Document Type: Article
ID: 25645.0
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
Authors: Otto, Edgar; Hoefele, Julia; Ruf, Rainer; Mueller, Adelheid M.; Hiller, Karl S.; Wolf, Matthias T. F.; Schuermann, Maria J.; Becker, Achim; Birkenhäger, Ralf; Sudbrak, Ralf; Hennies, Hans C.; Nürnberg, Peter; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2002-08-29
Title of Journal: American Journal of Human Genetics
Volume: 71
Issue / Number: 5
Start Page: 1161
End Page: 1167
Document Type: Article
ID: 27223.0
Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36
Authors: Schuermann, Maria J.; Otto, Edgar; Becker, Achim; Saar, Katrin; Rüschendorf, Franz; Polak, Bettine C.; Ala-Mello, Sirpa; Hoefele, Julia; Wiedensohler, Alexander; Haller, Maria; Omran, Heymut; Nürnberg, Peter; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2002-03-27
Title of Journal: American Journal of Human Genetics
Volume: 70
Issue / Number: 5
Start Page: 1240
End Page: 1246
Document Type: Article
ID: 26832.0
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
Authors: Olbrich, Heike; Häffner, Karsten; Kispert, Andreas; Völkel, Alexander; Volz, Andreas; Sasmaz, Gürsel; Reinhardt, Richard; Hennig, Steffen; Lehrach, Hans; Konietzko, Nikolaus; Zariwala, Maimoona; Noone, Peadar G.; Knowles, Michael; Mitchison, Hannah M.; Meeks, Maggie; Chung, Eddie M. K.; Hildebrandt, Friedhelm; Sudbrak, Ralf; Omran, Heymut
Date of Publication (YYYY-MM-DD): 2002-01-14
Title of Journal: Nature Genetics
Volume: 30
Issue / Number: 2
Start Page: 143
End Page: 144
Document Type: Article
ID: 24560.0
Entries: 1-10  
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